The optic nerve head in Myocilin glaucoma

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 1, 2007, Pages 238-243

  Hewitt, Alex W ^a,b   Bennett, Sonya L ^b   Fingert, John H ^c   Cooper, Richard L ^d   Stone, Edwin M ^c   Craig, Jamie E ^a   Mackey, David A ^b,e,f  

^a FLINDERS UNIVERSITY   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF IOWA   (United States)

^d Tasmanian Eye Clinics   (Australia)

^e UNIVERSITY OF TASMANIA   (Australia)

^f ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EYE PHOTOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GLAUCOMA; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOCILIN GENE; OPTIC NERVE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL FIELD; GENETICS; INTRAOCULAR PRESSURE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; OPTIC DISK; OPTIC NERVE DISEASE; PATHOLOGY; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MUTATION; OPTIC DISK; OPTIC NERVE DISEASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 33846939057     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0611     Document Type: Article

References (40)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
2. Hewitt AW, Craig JE, Mackey DA. Complex genetics of complex traits: the case of primary open-angle glaucoma. Clin Exp Ophthalmol. 2006;34:472-484.
3. Foster PJ, Buhrmann R, Quigley HA, Johnson GJ. The definition and classification of glaucoma in prevalence surveys. Br J Ophthalmol. 2002;86:238-242.
4. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905.
5. Fingert JH, Stone EM, Sheffield VC, Alward WL. Myocilin glaucoma. Surv Ophthalmol. 2002;47:547-561.
6. O'Brien ET, Ren X, Wang Y. Localization of myocilin to the golgi apparatus in Schlemm's canal cells. Invest Ophthalmol Vis Sci. 2000;41:3842-3849.
7. Clark AF, Kawase K, English-Wright S, et al. Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. FASEB J. 2001;15:1251-1253.
8. Tamm ER. Myocilin and glaucoma: facts and ideas. Prog Retin Eye Res. 2002;21:395-428.
9. Vollrath D, Liu YH. Temperature sensitive secretion of mutant myocilins. Exp Eye Res. 2006;82:1030-1036.
10. Gobeil S, Letartre L, Raymond V. Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion. Exp Eye Res. 2006;82: 1017-1029.
11. Alward WL, Fingert JH, Coote MA et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-1027.
12. Baird PN, Craig JE, Richardson AJ, et al. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Hum Genet. 2003; 112:110-116.
13. Allingham RR, Wiggs JL, De La Paz MA, et al. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 1998;39:2288-2295.
14. Craig JE, Baird PN, Healey DL, et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology. 2001;108:1607-1620.
15. Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedinhomology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-2097.
16. Shimizu S, Lichter PR, Johnson AT, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 2000;130:165-177.
17. Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet. 1998;63:1549-1552.
18. Puska P, Lemmela S, Kristo P, Sankila EM, Jarvela I. Penetrance and phenotype of the Thr377Met myocilin mutation in a large Finnish family with juvenile- and adult-onset open-angle glaucoma. Ophthalmic Genet. 2005;26:17-23.
19. Mackey DA, Healey DL, Fingert JH, et al. Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthalmol. 2003;121:1172-1180.
20. Sheen NJ, Morgan JE, Poulsen JL, North RV. Digital stereoscopic analysis of the optic disc: evaluation of a teaching program. Ophthalmology. 2004;111:1873-1879.
21. Morgan JE, Sheen NJ, North RV, et al. Discrimination of glaucomatous optic neuropathy by digital stereoscopic analysis. Ophthalmology. 2005;112:855-862.
22. Morgan JE, Sheen NJ, North RV, Choong Y, Ansari E. Digital imaging of the optic nerve head: monoscopic and stereoscopic analysis. Br J Ophthalmol. 2005;89:879-884.
23. Jonas JB, Nguyen XN, Gusek GC, Naumann GO. Parapapillary chorioretinal atrophy in normal and glaucoma eyes. I. Morphometric data. Invest Ophthalmol Vis Sci. 1989;30:908-918.
24. Jonas JB, Grundler A. Optic disc morphology in juvenile primary open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol. 1996; 234:750-754.
25. Miller KM, Quigley HA. Comparison of optic disc features in low-tension and typical open-angle glaucoma. Ophthalmic Surg. 1987;18:882-889.
26. Dupont WD, Plummer WD. PS power and sample size program available for free on the Internet. Control Clin Trials. 1997;18:274.
27. Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet. 1999;8:2221-2228.
28. Booth AP, Anwar R, Chen H, et al. Genetic screening in a large family with juvenile onset primary open angle glaucoma. Br J Ophthalmol. 2000;84:722-726.
29. Stone EM. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc. 2003; 101:437-484.
30. Henikoff S, Henikoff JG. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA. 1992;89:10915-10919.
31. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet. 2004;13: 1193-1204.
32. Jonas JB, Budde WM. Optic nerve head appearance in juvenile-onset chronic high-pressure glaucoma and normal-pressure glaucoma. Ophthalmology. 2000;107:704-711.
33. Tezel G, Kass MA, Kolker AE, Wax MB. Comparative optic disc analysis in normal pressure glaucoma, primary open-angle glaucoma, and ocular hypertension. Ophthalmology. 1996;103:2105-2113.
34. Hoyt WF, Newman NM. The earliest observable defect in glaucoma? Lancet. 1972;1:692-693.
35. Agapova OA, Kaufman PL, Lucarelli MJ, Gabelt BT, Hernandez MR. Differential expression of matrix metalloproteinases in monkey eyes with experimental glaucoma or optic nerve transection. Brain Res. 2003;967:132-143.
36. Healey PR, Mitchell P. Visibility of lamina cribrosa pores and open-angle glaucoma. Am J Ophthalmol. 2004;138:871-872.
37. Barron MJ, Griffiths P, Turnbull DM, Bates D, Nichols P. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol. 2004;88:286-290.
38. Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:2533-2541.
39. Caprioli J, Spaeth GL. Comparison of the optic nerve head in high-and low-tension glaucoma. Arch Ophthalmol. 1985;103:1145-1149.
40. Chariesworth JC, Dyer TD, Stankovich JM, et al. Linkage to 10q22 for Maximum IOP and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci. 2005;46:3723-3729.